"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522312	NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)	MYPN (N84S)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 573255	NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)	MYPN (P87A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 31836	NM_032578.4(MYPN):c.1104C>T (p.Gly368=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 138415	NM_032578.4(MYPN):c.1134C>T (p.Ile378=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 477737	NM_032578.4(MYPN):c.1236C>A (p.Thr412=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 138417	NM_032578.4(MYPN):c.1245+20A>G	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 201869	NM_032578.4(MYPN):c.1246-19G>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +1 more	GBenign
Select item 198273	NM_032578.4(MYPN):c.1293C>A (p.Ile431=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 227714	NM_032578.4(MYPN):c.1460-14T>A	MYPN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 544030	NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)	MYPN (R489Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GUncertain significance
Select item 31802	NM_032578.4(MYPN):c.1662A>C (p.Ala554=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related disorder +4 more	GBenign/Likely benign
Select item 509906	NM_032578.4(MYPN):c.1725A>G (p.Lys575=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GLikely benign
Select item 226841	NM_032578.4(MYPN):c.1893G>A (p.Arg631=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +3 more	GBenign/Likely benign
Select item 31805	NM_032578.4(MYPN):c.1935C>T (p.Pro645=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 863413	NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu)	MYPN (G553E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 138419	NM_032578.4(MYPN):c.2703+17T>C	MYPN	Single nucleotide variant (intron variant)	MYPN-related myopathy +2 more	GBenign
Select item 518229	NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala)	MYPN (E615A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GUncertain significance
Select item 31831	NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)	MYPN (R955Q +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +2 more	GUncertain significance
Select item 227718	NM_032578.4(MYPN):c.2880T>G (p.Ser960=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +2 more	GBenign/Likely benign
Select item 31799	NM_032578.4(MYPN):c.2886T>C (p.Val962=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	MYPN-related myopathy +2 more	GBenign
Select item 138422	NM_032578.4(MYPN):c.2925+9G>C	MYPN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 220771	NM_032578.4(MYPN):c.3075+5_3075+13del	LOC132089829, MYPN	Deletion (intron variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 389357	NM_032578.4(MYPN):c.3075+20C>T	LOC132089829, MYPN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 155824	NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)	MYPN (R1042C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 31791	NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)	MYPN (P1112L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1284445	NM_032578.4(MYPN):c.3405A>T (p.Pro1135=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 201875	NM_032578.4(MYPN):c.3493+15_3493+20del	MYPN	Deletion (intron variant)	Dilated cardiomyopathy 1KK +2 more	GBenign
Select item 1111450	NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 477758	NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 664509	NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr)	MYPN (A1241T +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1KK	GUncertain significance
Select item 518230	NM_032578.4(MYPN):c.3735G>T (p.Thr1245=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1KK +1 more	GLikely benign
Select item 477760	NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)	MYPN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 582566	NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)	MYPN (G1285R +1 more)	Single nucleotide variant (missense variant +1 more)	MYPN-related myopathy +2 more	GUncertain significance

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Items: 33